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fibrodysplasia ossificans progressiva

Disease Summary
Associated Targets (7)
Tbio

5

Tchem

2


Explore Associated Targets
Mondo Description Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites.
Uniprot Description A rare autosomal dominant connective tissue disorder resulting in skeletal malformations and progressive extraskeletal ossification. Heterotopic ossification begins in childhood and can be induced by trauma or may occur without warning. Bone formation is episodic and progressive, leading to a debilitating ankylosis of all major joints of the axial and appendicular skeleton, rendering movement impossible.
Disease Ontology Description A connective tissue disease that is characterized by progressive ossification of skeletal muscle, fascia, tendons, and ligaments and has_material_basis_in heterozygous mutation in the ACVR1 gene.
Mondo Term and Equivalent IDs
MONDO:0007606:  fibrodysplasia ossificans progressiva
GARD:0006445: 
ICD9:728.11: 
NCIT:C3040: 
Orphanet:337: 
SCTID:82725007: 
UMLS:C0016037: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)